Functional analysis of introns and gene regulatory sequences aimed at targeted modulation of gene expression

Objective

Regulation of gene expression is a complex phenomenon poorly understood. Our project aims to improve our knowledge about non-coding sequences, increasingly show to be relevant for modulating gene expression, using dystrophin gene and dystrophinopathies as model. Among the series of characterised patients, available in the collaborative units, several have unusual mutations and phenotype suggesting a role of non-coding regions. We will analyse these patients in order to identify and functionally study the regulatory sequences responsible. We will define the intronic breakpoints as well as other non-coding regions involved in dystrophin mutations. We will characterise these sequences by experimental studies to test their regulatory function with particular attention to those involved in pre-mRNA splicing. we will evaluate the feasibility of a targeted modulation of dystrophin gene expression using antisense oligonucleotides.

Fields of science

• natural sciences › biological sciences › genetics › mutation

Programme(s)

• FP5-LIFE QUALITY - Specific Programme for research, technological development and demonstration on "Quality of life and management of living resources", 1998-2002

Topic(s)

• 1.1.1.-8. - Research into genomes and diseases of genetic origin

Call for proposal

Data not available

Funding Scheme

CSC - Cost-sharing contracts

Coordinator

UNIVERSITA DEGLI STUDI DI FERRARA

Address

Via Savonarola 9
Ferrara
Italy

Participants (4)

IMPERIAL COLLEGE OF SCIENCE, TECHNOLOGY AND MEDICINE

United Kingdom

Address

South Kensington Campus
London

LEIDEN UNIVERSITY

Netherlands

Address

Wassenaarseweg 72
2300 RA Leiden

UNIVERSITA DEGLI STUDI DI PADOVA

Italy

Address

Via U.bassi 58/b
35131 Padova

UNIVERSITY OF LEICESTER

United Kingdom

Address

University Road
LE1 7RH Leicester

Links